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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8565726
Species: Homo sapiens
RGD Object: Variant
Symbol: CV31662
Name: NM_001002295.2(GATA3):c.829C>T (p.Arg277Ter)
Acc ID: DOID:0060878
Term: hypoparathyroidism-deafness-renal disease syndrome
Definition: A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10935639 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/874665 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CV31662 IAGP 8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:10935639 PMID:14985365 PMID:21242646 PMID:28492532
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